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MUC2 mucin 2, oligomeric mucus/gel-forming [ Homo sapiens (human) ]

Gene ID: 4583, updated on 6-Jul-2014
Official Symbol
MUC2provided by HGNC
Official Full Name
mucin 2, oligomeric mucus/gel-formingprovided by HGNC
Primary source
HGNC:7512
See related
Ensembl:ENSG00000198788; HPRD:11828; MIM:158370; Vega:OTTHUMG00000156800
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MLP; SMUC; MUC-2
Summary
This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins produced by many epithelial tissues. The protein encoded by this gene is secreted and forms an insoluble mucous barrier that protects the gut lumen. The protein polymerizes into a gel of which 80% is composed of oligosaccharide side chains by weight. The protein features a central domain containing tandem repeats rich in threonine and proline that varies between 50 and 115 copies in different individuals. Alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2008]
Annotation information
Annotation category: partial on reference assembly
See MUC2 in Epigenomics, MapViewer
Location:
11p15.5
Exon count :
51
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 11 NC_000011.10 (1074875..1110508)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (1074875..1104417)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene mucin 6, oligomeric mucus/gel-forming Neighboring gene uncharacterized LOC101927503 Neighboring gene mucin 5AC, oligomeric mucus/gel-forming Neighboring gene mucin 5B, oligomeric mucus/gel-forming Neighboring gene microRNA 6744

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.
NHGRI GWA Catalog
  • Amoebiasis, organism-specific biosystem (from KEGG)
    Amoebiasis, organism-specific biosystemEntamoeba histolytica, an extracellular protozoan parasite is a human pathogen that invades the intestinal epithelium. Infection occurs on ingestion of contaminated water and food. The pathogenesis o...
  • Amoebiasis, conserved biosystem (from KEGG)
    Amoebiasis, conserved biosystemEntamoeba histolytica, an extracellular protozoan parasite is a human pathogen that invades the intestinal epithelium. Infection occurs on ingestion of contaminated water and food. The pathogenesis o...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • O-linked glycosylation, organism-specific biosystem (from REACTOME)
    O-linked glycosylation, organism-specific biosystemO-glycosylation is an important post-translational modification (PTM) required for correct functioning of many proteins (Van den Steen et al. 1998, Moremen et al. 2012). The O-glycosylation of protei...
  • O-linked glycosylation of mucins, organism-specific biosystem (from REACTOME)
    O-linked glycosylation of mucins, organism-specific biosystemMucins are a family of high molecular weight, heavily glycosylated proteins (glycoconjugates) produced by epithelial tissues in most metazoa. Mucins' key characteristic is their ability to form gels...
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • Termination of O-glycan biosynthesis, organism-specific biosystem (from REACTOME)
    Termination of O-glycan biosynthesis, organism-specific biosystemO-glycan biosynthesis can be terminated (or modified) by the addition of sialic acid residues on Core 1 and 2 glycoproteins by sialyltransferases (Varki et al. 2009).
  • Vibrio cholerae infection, organism-specific biosystem (from KEGG)
    Vibrio cholerae infection, organism-specific biosystemCholera toxin (CTX) is one of the main virulence factors of Vibrio cholerae. Once secreted, CTX B-chain (CTXB) binds to ganglioside GM1 on the surface of the host's cells. After binding takes place, ...
  • Vibrio cholerae infection, conserved biosystem (from KEGG)
    Vibrio cholerae infection, conserved biosystemCholera toxin (CTX) is one of the main virulence factors of Vibrio cholerae. Once secreted, CTX B-chain (CTXB) binds to ganglioside GM1 on the surface of the host's cells. After binding takes place, ...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
O-glycan processing TAS
Traceable Author Statement
more info
 
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
maintenance of gastrointestinal epithelium IMP
Inferred from Mutant Phenotype
more info
PubMed 
post-translational protein modification TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
Golgi lumen TAS
Traceable Author Statement
more info
 
inner mucus layer ISS
Inferred from Sequence or Structural Similarity
more info
 
outer mucus layer ISS
Inferred from Sequence or Structural Similarity
more info
 
Preferred Names
mucin-2
Names
mucin-2
intestinal mucin-2
mucin-like protein
mucin 2, intestinal/tracheal

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_002457.3NP_002448.3  mucin-2 precursor

    Status: VALIDATED

    Source sequence(s)
    AC139749, AC239832, L21998
    UniProtKB/Swiss-Prot
    Q02817
    Related
    ENSP00000415183, OTTHUMP00000210640, ENST00000441003, OTTHUMT00000345894
    Conserved Domains (8) summary
    pfam00007
    Location:50725175
    Blast Score: 236
    Cys_knot; Cystine-knot domain
    smart00214
    Location:49264990
    Blast Score: 104
    VWC; von Willebrand factor (vWF) type C domain
    smart00216
    Location:8491008
    Blast Score: 398
    VWD; von Willebrand factor (vWF) type D domain
    smart00832
    Location:582652
    Blast Score: 248
    C8; This domain contains 8 conserved cysteine residues
    pfam00094
    Location:37186
    Blast Score: 304
    VWD; von Willebrand factor type D domain
    pfam01826
    Location:295351
    Blast Score: 130
    TIL; Trypsin Inhibitor like cysteine rich domain
    pfam08742
    Location:10451118
    Blast Score: 246
    C8; C8 domain
    pfam13330
    Location:13051388
    Blast Score: 225
    Mucin2_WxxW; Mucin-2 protein WxxW repeating region

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 ALT_REF_LOCI_3

Genomic

  1. NT_187681.1 

    Range
    149268..178809
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000011.10 

    Range
    1074875..1110508
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000143.1 

    Range
    897783..932204
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 

    Range
    1073796..1103732
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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